Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

CGG triplet repeat-binding protein 1

Gene

CGGBP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Binds to nonmethylated 5'-d(CGG)(n)-3' trinucleotide repeats in the FMR1 promoter. May play a role in regulating FMR1 promoter.1 Publication

Miscellaneous

Binding is severely inhibited by complete or partial cytosine-specific DNA methylation of the binding motif.

GO - Molecular functioni

  • double-stranded DNA binding Source: ProtInc
  • identical protein binding Source: IntAct
  • RNA polymerase II regulatory region sequence-specific DNA binding Source: NTNU_SB
  • transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: NTNU_SB

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
CGG triplet repeat-binding protein 1
Short name:
CGG-binding protein 1
Alternative name(s):
20 kDa CGG-binding protein
p20-CGGBP DNA-binding protein
Gene namesi
Name:CGGBP1
Synonyms:CGGBP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000163320.10
HGNCiHGNC:1888 CGGBP1
MIMi603363 gene
neXtProtiNX_Q9UFW8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi8545
OpenTargetsiENSG00000163320
PharmGKBiPA26441

Polymorphism and mutation databases

BioMutaiCGGBP1
DMDMi116243045

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002524151 – 167CGG triplet repeat-binding protein 1Add BLAST167

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei56PhosphoserineCombined sources1
Modified residuei164PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UFW8
MaxQBiQ9UFW8
PaxDbiQ9UFW8
PeptideAtlasiQ9UFW8
PRIDEiQ9UFW8

PTM databases

iPTMnetiQ9UFW8
PhosphoSitePlusiQ9UFW8

Expressioni

Tissue specificityi

Ubiquitous. Highly expressed in placenta, thymus, lymph nodes, cerebellum and cerebral cortex. Low expression in other regions of the brain.1 Publication

Developmental stagei

Expressed in fetal brain and kidney. Lower expression in fetal liver and lung.1 Publication

Gene expression databases

BgeeiENSG00000163320
CleanExiHS_CGGBP1
ExpressionAtlasiQ9UFW8 baseline and differential
GenevisibleiQ9UFW8 HS

Organism-specific databases

HPAiHPA035568
HPA037017

Interactioni

Binary interactionsi

Show more details

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi114115, 22 interactors
IntActiQ9UFW8, 23 interactors
MINTiQ9UFW8
STRINGi9606.ENSP00000381428

Structurei

3D structure databases

ProteinModelPortaliQ9UFW8
SMRiQ9UFW8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi80 – 84Nuclear localization signalSequence analysis5

Phylogenomic databases

eggNOGiENOG410IE4P Eukaryota
ENOG41111EK LUCA
GeneTreeiENSGT00390000017898
HOGENOMiHOG000000684
HOVERGENiHBG081129
InParanoidiQ9UFW8
OMAiFGSELHE
OrthoDBiEOG091G0O2H
PhylomeDBiQ9UFW8
TreeFamiTF335518

Family and domain databases

InterProiView protein in InterPro
IPR033375 Cggbp1
PANTHERiPTHR32344 PTHR32344, 1 hit

Sequencei

Sequence statusi: Complete.

Q9UFW8-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MERFVVTAPP ARNRSKTALY VTPLDRVTEF GGELHEDGGK LFCTSCNVVL
60 70 80 90 100
NHVRKSAISD HLKSKTHTKR KAEFEEQNVR KKQRPLTASL QCNSTAQTEK
110 120 130 140 150
VSVIQDFVKM CLEANIPLEK ADHPAVRAFL SRHVKNGGSI PKSDQLRRAY
160
LPDGYENENQ LLNSQDC
Length:167
Mass (Da):18,820
Last modified:October 17, 2006 - v2
Checksum:i1AF69CDB885BB8AD
GO

Sequence cautioni

The sequence CAB55894 differs from that shown. Reason: Frameshift at position 149.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti165Q → R in CAB55894 (PubMed:14667814).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ000258 mRNA Translation: CAA03974.1
AF094481 Genomic DNA Translation: AAD04161.1
CR456854 mRNA Translation: CAG33135.1
AL117392 mRNA Translation: CAB55894.1 Frameshift.
AM393707 mRNA Translation: CAL38583.1
CH471110 Genomic DNA Translation: EAW68863.1
CH471110 Genomic DNA Translation: EAW68864.1
BC052980 mRNA Translation: AAH52980.1
CCDSiCCDS43111.1
PIRiT17204
RefSeqiNP_001008391.1, NM_001008390.1
NP_001182237.1, NM_001195308.1
NP_003654.3, NM_003663.3
XP_016862844.1, XM_017007355.1
UniGeneiHs.444818

Genome annotation databases

EnsembliENST00000309534; ENSP00000381428; ENSG00000163320
ENST00000398392; ENSP00000381429; ENSG00000163320
ENST00000462901; ENSP00000418769; ENSG00000163320
ENST00000482016; ENSP00000420374; ENSG00000163320
GeneIDi8545
KEGGihsa:8545
UCSCiuc003dqs.4 human

Similar proteinsi

Entry informationi

Entry nameiCGBP1_HUMAN
AccessioniPrimary (citable) accession number: Q9UFW8
Secondary accession number(s): D3DU38, O15183
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: October 17, 2006
Last modified: May 23, 2018
This is version 124 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health